Genetic variations of filaggrin encoding gene \(\textit{(FLG)}\) in the Vietnamese population revealed from whole-exome sequencing

Filaggrin is a key protein that facilitates terminal differentiation of the epidermis and maintains skin barrier function. Mutations in gene encoding filaggrin (FLG) have been identified to cause ichthyosis vulgaris, increase risk atopic dermatitis other diseases. In this study, we established database FLG obtained by whole-exome sequencing (WES) 244 Vietnamese. We also estimated allele genotype frequencies Vietnamese population predicted impact novel variants on function using silico analysis tools. The detected included 126 nonsynonymous, six nonsense mutations, frameshift insertions/deletions, one non-frameshift deletion, mostly located exon 3. Of which, there were 11 four them as detrimental for protein. Remarkable pathogenic variants, showing main genetic factor underlying pathology diseases caused FLG. results study would provide essential information about characteristics occurrence related gene, which development new specific accurate diagnosis, treatment, prevention options FLG-related diseases, particularly